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LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.

Abstract：

:Alazami syndrome (AS) (MIM# 615071) is an autosomal recessive microcephalic primordial dwarfism (PD) with recognizable facial features and severe intellectual disability due to depletion or loss of function variants in LARP7. To date, 15 patients with AS have been reported. Here we describe two consanguineous Algerian sisters with Alazami PD due to LARP7 homozygous pathogenic variants detected by whole exome sequencing. By comparing these two additional cases with those previously reported, we strengthen the key features of AS: severe growth restriction, severe intellectual disability and some distinguishing facial features such as broad nose, malar hypoplasia, wide mouth, full lips and abnormally set teeth. We also report significant new findings enabling further delineation of this syndrome: disproportionately mild microcephaly, stereotypic hand wringing and severe anxiety, thickened skin over the hands and feet, and skeletal, eye and heart malformations. From previous reviews, we summarize the main etiologies of PD according to the involved mechanisms and cellular pathways, highlighting their clinical core features.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Imbert-Bouteille M,Mau Them FT,Thevenon J,Guignard T,Gatinois V,Riviere JB,Boland A,Meyer V,Deleuze JF,Sanchez E,Apparailly F,Geneviève D,Willems M

doi

10.1016/j.ejmg.2018.07.003

subject

Has Abstract

pub_date

2019-03-01 00:00:00

pages

161-166

issue

3

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(17)30814-5

journal_volume

62

pub_type

杂志文章

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