In:
American Journal of Medical Genetics Part A, Wiley, Vol. 179, No. 11 ( 2019-11), p. 2257-2262
Abstract:
SMG9 deficiency is an extremely rare autosomal recessive condition originally described in three patients from two families harboring homozygous truncating SMG9 variants in a context of severe syndromic developmental disorder. To our knowledge, no additional patient has been described since this first report. Methods We performed exome sequencing in a patient exhibiting a syndromic developmental delay and in her unaffected parents and report the phenotypic features. Results Our patient presented with a syndromic association of severe global developmental delay and diverse malformations, including cleft lip and palate, facial dysmorphic features, brain abnormalities, heart defect, growth retardation, and severe infections. She carried a novel SMG9 homozygous variant NM_019108.3:c.1177C 〉 T, p.(Gln393*), while her unaffected parents were both heterozygous. Conclusions We confirm that bi‐allelic truncating SMG9 variants cause a severe developmental syndrome including brain and heart malformations associated with facial dysmorphic features, severe growth and developmental delay with or without ophthalmological abnormalities, severe feeding difficulties, and life‐threatening infections.
Type of Medium:
Online Resource
ISSN:
1552-4825
,
1552-4833
DOI:
10.1002/ajmg.a.v179.11
DOI:
10.1002/ajmg.a.61317
Language:
English
Publisher:
Wiley
Publication Date:
2019
detail.hit.zdb_id:
1493479-6
SSG:
12
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