Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.


:Genomic DNA from 19 Japanese patients with congenital lipoid adrenal hyperplasia (lipoid CAH) representing 16 different families was examined to identify the genetic alterations of steroidogenic acute regulatory protein (StAR). Ten of 19 patients had a 46,XX karyotype and nine had a 46,XY karyotype. Six of the 46,XX patients have experienced spontaneous pubertal changes including breast development and irregular menstruation whereas none of the 46,XY subjects displayed pubertal changes. Eight different mutations were identified. Sixteen patients were either homozygotes or compound heterozygotes for the Q258X mutation. The seven other mutations identified were 189delG, 246insG, 564del13bp, 838delA, Q212X, A218V and M225T. The 189delG, 246insG, 546del13bp and Q212X mutants encode truncated proteins. COS-1 cells transfected with expression vectors encoding cDNAs for the mutant StAR proteins which affect the C-terminus, 838delA, A218V and Q258X, exhibited no steroidogenesis enhancing activity. However, the M225T mutant retained some steroidogenic activity. The patient with the M225T mutation had late onset of this disorder and some capacity to secrete testosterone in response to hCG. These findings suggest: (i) that the Q258X mutation can be used as a genetic marker for the screening of Japanese for lipoid CAH, (ii) that the C-terminus of StAR plays an important role in the protein's activity and (iii) that there are differences in the extent of functional impairment of the testis and ovaries in lipoid CAH.


Hum Mol Genet


Human molecular genetics


Nakae J,Tajima T,Sugawara T,Arakane F,Hanaki K,Hotsubo T,Igarashi N,Igarashi Y,Ishii T,Koda N,Kondo T,Kohno H,Nakagawa Y,Tachibana K,Takeshima Y,Tsubouchi K,Strauss JF 3rd,Fujieda K




Has Abstract


1997-04-01 00:00:00














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    journal_title:Human molecular genetics

    pub_type: 杂志文章,meta分析


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    更新日期:1993-03-01 00:00:00

  • C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.

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  • Ataxin-2 repeat-length variation and neurodegeneration.

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    更新日期:1998-09-01 00:00:00

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    pub_type: 杂志文章


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    pub_type: 杂志文章


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    journal_title:Human molecular genetics

    pub_type: 杂志文章,meta分析


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    更新日期:2014-02-15 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Khot M,Sreekumar D,Jahagirdar S,Kulkarni A,Hari K,Faseela EE,Sabarinathan R,Jolly MK,Sengupta K

    更新日期:2020-06-27 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Barron LH,Rae A,Holloway S,Brock DJ,Warner JP

    更新日期:1994-01-01 00:00:00

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    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Anglès F,Hutt DM,Balch WE

    更新日期:2019-06-15 00:00:00

  • Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.

    abstract::Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: McCampbell A,Truong D,Broom DC,Allchorne A,Gable K,Cutler RG,Mattson MP,Woolf CJ,Frosch MP,Harmon JM,Dunn TM,Brown RH Jr

    更新日期:2005-11-15 00:00:00

  • Precursor arrays for triplet repeat expansion at the fragile X locus.

    abstract::To determine factors governing triplet repeat expansion at FMR1, we need to understand the basis of normal variation. We have sequenced the FMR1 repeat from 102 normal X chromosomes and show that most are interrupted with a regularly spaced AGG trinucleotide giving an ordered structure to the array. Five types of arra...

    journal_title:Human molecular genetics

    pub_type: 杂志文章


    authors: Hirst MC,Grewal PK,Davies KE

    更新日期:1994-09-01 00:00:00

  • Molecular genetics of oculocutaneous albinism.

    abstract::Albinism is a group of genetic disorders characterized by deficient synthesis of melanin pigment. In oculocutaneous albinism (OCA) the pigment deficiency involves the skin, hair, and eyes, whereas in ocular albinism (OA) the defect involves principally the visual system. Type I (tyrosinase-deficient) OCA results from ...

    journal_title:Human molecular genetics

    pub_type: 杂志文章,评审


    authors: Spritz RA

    更新日期:1994-01-01 00:00:00