Eye development genes and known syndromes.


:Anophthalmia and microphthalmia (A/M) are significant eye defects because they can have profound effects on visual acuity. A/M is associated with non-ocular abnormalities in an estimated 33-95% of cases and around 25% of patients have an underlying genetic syndrome that is diagnosable. Syndrome recognition is important for targeted molecular genetic testing, prognosis and for counseling regarding recurrence risks. This review provides clinical and molecular information for several of the commonest syndromes associated with A/M: Anophthalmia-Esophageal-Genital syndrome, caused by SOX2 mutations, Anophthalmia and pituitary abnormalities caused by OTX2 mutations, Matthew-Wood syndrome caused by STRA6 mutations, oculofaciocardiodental syndrome and Lenz microphthalmia caused by BCOR mutations, Microphthalmia Linear Skin pigmentation syndrome caused by HCCS mutations, Anophthalmia, pituitary abnormalities, polysyndactyly caused by BMP4 mutations and Waardenburg anophthalmia caused by mutations in SMOC1. In addition, we briefly discuss the ocular and extraocular phenotypes associated with several other important eye developmental genes, including GDF6, VSX2, RAX, SHH, SIX6 and PAX6.


Mol Genet Metab


Slavotinek AM




Has Abstract


2011-12-01 00:00:00














  • Valproate induces in vitro accumulation of long-chain fatty acylcarnitines.

    abstract::To elucidate the interference mechanisms of valproate (VPA) with mitochondrial fatty acid beta-oxidation (FAO), the profile of acylcarnitine formation was studied in vitro. Human fibroblasts were incubated with 0.2 mmol/L [U-(13)C]palmitate, 0.4 mmol/L l-carnitine, +/- VPA (2 mmol/L) (96 h at 37 degrees C). Acylcarnit...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Silva MF,Jakobs C,Duran M,de Almeida IT,Wanders RJ

    更新日期:2001-08-01 00:00:00

  • A high throughput beta-globin genotyping method by multiplexed melting temperature analysis.

    abstract::For a population-based newborn screening program, challenges exist in using technological advances to improve the quality and efficiency of the existing screening program and to develop new diagnostic capabilities. A newly developed genotyping method for screening of common mutations within the beta-globin gene is des...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Lin Z,Suzow JG,Fontaine JM,Naylor EW

    更新日期:2004-03-01 00:00:00

  • 1Alpha,25-dihydroxy-3-epi-vitamin D3, a natural metabolite of 1alpha,25-dihydroxy vitamin D3: production and biological activity studies in pulmonary alveolar type II cells.

    abstract::Pulmonary alveolar type II cells have been shown to be a possible target for the secosteroid hormone, 1alpha,25-dihydroxyvitamin D3 [1alpha,25(OH)2D3], during perinatal transition. At present, there is great interest to isolate and identify the metabolites of 1alpha,25(OH)2D3 produced in its target tissues and to dete...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Rehan VK,Torday JS,Peleg S,Gennaro L,Vouros P,Padbury J,Rao DS,Reddy GS

    更新日期:2002-05-01 00:00:00

  • Intracellular galactose-1-phosphate accumulation leads to environmental stress response in yeast model.

    abstract::In humans, deficiency of galactose-1-phosphate uridyltransferase (GALT) can lead a metabolic disorder Classic Galactosemia. Although the biochemical abnormalities associated with this disease have been described in detail, few attempts have been made to characterize the pathogenic mechanisms of this disorder at the mo...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Slepak T,Tang M,Addo F,Lai K

    更新日期:2005-11-01 00:00:00

  • Does a lower carbohydrate protein substitute impact on blood phenylalanine control, growth and appetite in children with PKU?

    abstract:BACKGROUND:In children with phenylketonuria (PKU), it is possible that high carbohydrate protein substitutes may adversely affect blood phenylalanine control. We evaluated if a low carbohydrate, 'ready-to-drink' protein substitute would impact on short term blood phenylalanine control, weight and appetite in children w...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,随机对照试验


    authors: Gokmen-Ozel H,Ferguson C,Evans S,Daly A,MacDonald A

    更新日期:2011-01-01 00:00:00

  • Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.

    abstract::Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storag...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Ferreira CR,Chen D,Abraham SM,Adams DR,Simon KL,Malicdan MC,Markello TC,Gunay-Aygun M,Gahl WA

    更新日期:2017-03-01 00:00:00

  • Maternal medium-chain acyl-CoA dehydrogenase deficiency identified by newborn screening.

    abstract::Prior to the advent of expanded newborn screening, sudden and unexplained death was often the first and only symptom of medium-chain acyl-CoA dehydrogenase deficiency (MCADD). With the use of tandem mass spectrometry, infants can now be identified and treated before a life threatening metabolic decompensation occurs. ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Leydiker KB,Neidich JA,Lorey F,Barr EM,Puckett RL,Lobo RM,Abdenur JE

    更新日期:2011-05-01 00:00:00

  • A novel luteinizing hormone receptor mutation in a patient with familial male-limited precocious puberty: effect of the size of a critical amino acid on receptor activity.

    abstract::Familial male-limited precocious puberty (FMPP) is a form of luteinizing hormone-releasing hormone (LHRH)-independent isosexual precocious puberty caused by gain-of-function mutations of the luteinizing hormone/chorionic gonadotropin receptor (hLHR). The most common mutation is 1733 A>G, which causes substitution of A...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Wu SM,Leschek EW,Brain C,Chan WY

    更新日期:1999-01-01 00:00:00

  • Mutations in the muscle LIM protein and alpha-actinin-2 genes in dilated cardiomyopathy and endocardial fibroelastosis.

    abstract::Dilated cardiomyopathy (DCM) is a major cause of morbidity and mortality. Two genes have been identified for the X-linked forms (dystrophin and tafazzin), while mutations in multiple genes cause autosomal dominant DCM. Muscle LIM protein (MLP) is a member of the cysteine-rich protein (CRP) family and has been implicat...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Mohapatra B,Jimenez S,Lin JH,Bowles KR,Coveler KJ,Marx JG,Chrisco MA,Murphy RT,Lurie PR,Schwartz RJ,Elliott PM,Vatta M,McKenna W,Towbin JA,Bowles NE

    更新日期:2003-09-01 00:00:00

  • Mechanism of ruminant placental lactogen action: molecular and in vivo studies.

    abstract::Ruminant placental lactogens (PLs) are structurally related to prolactins (PRLs) and growth hormones (GHs) and are secreted by placentae. Ruminant PLs are unusual in their capacity to bind and activate PRL and GH receptors (Rs) from other species. The present minireview summarizes several works showing that unlike in ...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Gertler A,Djiane J

    更新日期:2002-03-01 00:00:00

  • Lysosomal acid lipase mutations that determine phenotype in Wolman and cholesterol ester storage disease.

    abstract::Mechanisms producing the divergent phenotypes, Wolman disease (WD) and cholesterol ester storage disease (CESD), associated with the genetic deficiency of human lysosomal acid lipase/cholesterol ester hydrolase (hLAL) function were investigated with the determination of HLAL activity levels, mRNA and protein expressio...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Anderson RA,Bryson GM,Parks JS

    更新日期:1999-11-01 00:00:00

  • From bench to bedside: a diagnostics framework for pharmacogenetics research.

    abstract::Although many genetic variants have been associated with differential drug responses, a very limited number of pharmacogenetic tests have entered common clinical practice. Pharmacogenetic tests that are successful address unmet medical needs, are clinically relevant, and have sufficient sensitivity, and specificity. I...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Katz DA

    更新日期:2002-09-01 00:00:00

  • Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

    abstract:OBJECTIVE:To better delineate the natural history of patients with methylmalonic aciduria (MMA). STUDY DESIGN:Thirty patients with vitamin-B12-unresponsive MMA (25 aged 1.5 to 22.0 years (y) at the end of the study and 5 who died during a metabolic crisis) were managed following standardized guidelines and studied ret...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Cosson MA,Benoist JF,Touati G,Déchaux M,Royer N,Grandin L,Jais JP,Boddaert N,Barbier V,Desguerre I,Campeau PM,Rabier D,Valayannopoulos V,Niaudet P,de Lonlay P

    更新日期:2009-07-01 00:00:00

  • Molecular analysis of the UROD gene in 17 Argentinean patients with familial porphyria cutanea tarda: characterization of four novel mutations.

    abstract::Porphyria cutanea tarda (PCT) is caused by decreased activity of uroporphyrinogen decarboxylase (UROD) in the liver. The disease usually occurs in adulthood and is characterized by cutaneous photosensitivity, hyperpigmentation, skin fragility and hypertrichosis, due to the accumulation of porphyrins produced by oxidat...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Méndez M,Rossetti MV,Gómez-Abecia S,Morán-Jiménez MJ,Parera V,Batlle A,Enríquez de Salamanca R

    更新日期:2012-04-01 00:00:00

  • Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

    abstract::Niemann-Pick disease (NPD) is a neurovisceral lysosomal storage disorder caused by acid sphingomyelinase (ASM) deficiency, which can be categorized as either Niemann-Pick disease type A [NPD-A], with progressive neurological disease and death in early childhood, or as Niemann-Pick disease type B [NPD-B], with a more v...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Hollak CE,de Sonnaville ES,Cassiman D,Linthorst GE,Groener JE,Morava E,Wevers RA,Mannens M,Aerts JM,Meersseman W,Akkerman E,Niezen-Koning KE,Mulder MF,Visser G,Wijburg FA,Lefeber D,Poorthuis BJ

    更新日期:2012-11-01 00:00:00

  • Dysregulated DNA methylation of GLA gene was associated with dysfunction of autophagy.

    abstract::Lysosomes are an essential organ for cellular metabolism and play an important role in autophagy. We examined the association between methylation and autophagy in a severely affected female patient with Fabry disease, which is caused by mutation of the GLA gene on the X chromosome, and her two sisters, who had few sym...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Yanagisawa H,Hossain MA,Miyajima T,Nagao K,Miyashita T,Eto Y

    更新日期:2019-04-01 00:00:00

  • Human betaine-homocysteine methyltransferase (BHMT) and BHMT2: common gene sequence variation and functional characterization.

    abstract::Betaine-homocysteine methyltransferase (BHMT) catalyzes the remethylation of homocysteine. BHMT2 encodes a protein 73% identical in amino acid sequence to BHMT, but the function of BHMT2 remains unclear. We set out to identify and functionally characterize common genetic variation in BHMT and BHMT2. Specifically, we s...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Li F,Feng Q,Lee C,Wang S,Pelleymounter LL,Moon I,Eckloff BW,Wieben ED,Schaid DJ,Yee V,Weinshilboum RM

    更新日期:2008-07-01 00:00:00

  • Visual functions in phenylketonuria-evaluating the dopamine and long-chain polyunsaturated fatty acids depletion hypotheses.

    abstract:BACKGROUND:In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad spectrum of visual functions in early-treated patients with phenylketonu...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Gramer G,Förl B,Springer C,Weimer P,Haege G,Mackensen F,Müller E,Völcker HE,Hoffmann GF,Lindner M,Krastel H,Burgard P

    更新日期:2013-01-01 00:00:00

  • BRCA1 suppresses insulin-like growth factor-I receptor promoter activity: potential interaction between BRCA1 and Sp1.

    abstract::The insulin-like growth factor I receptor (IGF-I-R) has an important role in breast cancer etiology. The receptor is overexpressed by most breast cancers, where it functions as a potent antiapoptotic agent. BRCA1 is a tumor suppressor gene that is mutated in a large fraction of familial breast and ovarian cancers. Cot...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Maor SB,Abramovitch S,Erdos MR,Brody LC,Werner H

    更新日期:2000-02-01 00:00:00

  • Identification of GLA gene deletions in Fabry patients by Multiplex Ligation-dependent Probe Amplification (MLPA).

    abstract::Fabry disease is an under-recognized X-linked lysosomal disorder, due to alpha-galactosidase A deficiency. Most of the mutations in the GLA gene are detectable using genomic sequencing analysis. However, deletions of one or more exons or deletion encompassing the entire gene are undetectable, especially in heterozygou...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Schirinzi A,Centra M,Prattichizzo C,Gigante M,De Fabritiis M,Giancaspro V,Petrarulo F,Santacroce R,Margaglione M,Gesualdo L,Ranieri E

    更新日期:2008-07-01 00:00:00

  • Novel variants of the human flavin-containing monooxygenase 3 (FMO3) gene associated with trimethylaminuria.

    abstract::The disorder trimethylaminuria (TMAu) often manifests itself in a body odor for individuals affected. TMAu is due to decreased metabolism of dietary-derived trimethylamine (TMA). In a healthy individual, 95% or more of TMA is converted by the flavin-containing monooxygenase 3 (FMO3, EC to non-odorous trimet...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Motika MS,Zhang J,Zheng X,Riedler K,Cashman JR

    更新日期:2009-06-01 00:00:00

  • Experience, knowledge, and opinions about childhood genetic testing in Batten disease.

    abstract:BACKGROUND AND OBJECTIVES:Policies for genetic testing in children (GTIC) focus on medical or psychosocial benefit to the child, discouraging or prohibiting carrier testing, and advising caution regarding pre-symptomatic diagnosis if no treatment exists. This study sought to understand parents' perspectives on these is...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Adams HR,Rose K,Augustine EF,Kwon JM,deBlieck EA,Marshall FJ,Vierhile A,Mink JW,Nance MA

    更新日期:2014-02-01 00:00:00

  • Effects of tetrahydrobiopterin and phenylalanine on in vivo human phenylalanine hydroxylase by phenylalanine breath test.

    abstract::BH(4) administration results in the reduction of blood phenylalanine level in patients with tetrahydrobiopterin (BH(4))-responsive phenylalanine hydroxylase (PAH) deficiency. The mechanism underlying BH(4) response remains unknown. Here, we studied the effects of BH(4) and phenylalanine on in vivo PAH activity of norm...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Okano Y,Takatori K,Kudo S,Sakaguchi T,Asada M,Kajiwara M,Yamano T

    更新日期:2007-12-01 00:00:00

  • Practices in prescribing protein substitutes for PKU in Europe: No uniformity of approach.

    abstract:BACKGROUND:There appears little consensus concerning protein requirements in phenylketonuria (PKU). METHODS:A questionnaire completed by 63 European and Turkish IMD centres from 18 countries collected data on prescribed total protein intake (natural/intact protein and phenylalanine-free protein substitute [PS]) by age...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Aguiar A,Ahring K,Almeida MF,Assoun M,Belanger Quintana A,Bigot S,Bihet G,Blom Malmberg K,Burlina A,Bushueva T,Caris A,Chan H,Clark A,Clark S,Cochrane B,Corthouts K,Dalmau J,Dassy M,De Meyer A,Didycz B,Diels M,D

    更新日期:2015-05-01 00:00:00

  • Problems in the management of urea cycle disorders.

    abstract::Several recent reviews describe the management of urea cycle disorders. There is much agreement on diet, alternative pathway therapy, maintenance of arginine and ornithine levels in acute and chronic management, sick-day regimens, and some aspects of monitoring. However, differences remain in several areas, and physic...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章,评审


    authors: Wilcken B

    更新日期:2004-04-01 00:00:00

  • Successful liver transplantation in mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

    abstract::Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal disorder characterized by progressive gastrointestinal dysmotility, peripheral neuropathy, leukoencephalopathy, skeletal myopathy, ophthalmoparesis, and ptosis. MNGIE stems from deficient thymidine phosphorylase activity (TP) leading to toxic ele...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Kripps K,Nakayuenyongsuk W,Shayota BJ,Berquist W,Gomez-Ospina N,Esquivel CO,Concepcion W,Sampson JB,Cristin DJ,Jackson WE,Gilliland S,Pomfret EA,Kueht ML,Pettit RW,Sherif YA,Emrick LT,Elsea SH,Himes R,Hirano M,Van H

    更新日期:2020-05-01 00:00:00

  • Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type Ia.

    abstract::The association of fetal hydrops with Congenital Disorders of Glycosylation (CDG) has been reported previously. Pericardial fluid accumulation and ascites were also observed in a few young patients with CDG type Ia. Here we describe the clinical and biochemical features in three children developing life-threatening ex...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Truin G,Guillard M,Lefeber DJ,Sykut-Cegielska J,Adamowicz M,Hoppenreijs E,Sengers RC,Wevers RA,Morava E

    更新日期:2008-08-01 00:00:00

  • The effect of bone marrow transplantation on oxidative stress in X-linked adrenoleukodystrophy.

    abstract::Oxidative stress plays an important role in the pathophysiology of neurodegenerative diseases, including X-linked adrenoleukodystrophy (X-ALD). In the present work, we evaluated lipid (malondialdehyde [MDA] content) and protein (sulfhydryl and carbonyl contents) oxidative damage parameters in plasma from X-ALD patient...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Rockenbach FJ,Deon M,Marchese DP,Manfredini V,Mescka C,Ribas GS,Habekost CT,Castro CG Jr,Jardim LB,Vargas CR

    更新日期:2012-06-01 00:00:00

  • Physiotherapy management in late-onset Pompe disease: clinical practice in 88 patients.

    abstract::Pompe disease is an inherited metabolic, neuromuscular disorder. With the introduction of enzyme replacement therapy skeletal muscle and respiratory function can be stabilized or improved. Additional physiotherapy to advance physical functioning of patients might be beneficial, but evidence and guidelines are lacking....

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Favejee MM,Huisstede BM,Bussmann JB,Kruijshaar ME,van der Ploeg AT

    更新日期:2012-09-01 00:00:00

  • The redox status of cystinotic fibroblasts.

    abstract::A key unresolved question in the pathogenesis of phenotype development in nephropathic cystinosis is whether intralysosomal cystine, the hallmark of this lethal inborn error of metabolism, alters cytoplasmic redox potential. Variable findings on this issue have been reported. This study of fetal and non-fetal skin and...

    journal_title:Molecular genetics and metabolism

    pub_type: 杂志文章


    authors: Vitvitsky V,Witcher M,Banerjee R,Thoene J

    更新日期:2010-04-01 00:00:00