UBE2A Deficiency Syndrome: A Report of Two Unrelated Cases with Large Xq24 Deletions Encompassing UBE2A Gene

Stefanova, Margarita (author): Linköpings universitet,Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik,Institute of Biomedicine, Department of Medical and Clinical Genetics,Avdelningen för cellbiologi,Medicinska fakulteten,Region Östergötland, Klinisk patologi och klinisk genetik,Sahlgrens University Hospital, Sweden; University of Gothenburg, Sweden

(creator_code:org_t)

2014-10-06
2015
English.
In: American Journal of Medical Genetics Part A. - : Wiley. - 1552-4825 .- 1552-4833. ; 167A:1, s. 204-210

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Abstract Subject headings

Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X-linked intellectual disability type Nascimento (OMIM#300860). Common clinical features in these patients include moderate to severe intellectual disability (ID), heart defects, dysmorphic features such as high forehead, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, wide mouth, myxedematous appearance, hirsutism, onychodystrophy, and genital anomalies. This study investigates clinical and molecular data of two unrelated, affected males with chromosome Xq24 deletions encompassing UBE2A. Both have been followed from birth until two years of age. A review of the previously published patients with deletions encompassing UBE2A is provided. Besides the common features, the two boys show anomalies not previously described, such as retinal coloboma, esophageal atresia with esophageal fistula, long fingers, camptodactyly, clinodactyly, and long broad toes. Analyses of the phenotype-genotype correlations suggest considerable prevalence of heart defects in the group of patients with larger deletions of Xq24 in comparison to the patients having intragenic UBE2A mutations. However, further studies are needed in order to establish statistically reliable phenotype-genotype correlations of this syndrome. (C) 2014 Wiley Periodicals, Inc.

MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Clinical Medicine (hsv//eng)
MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper (hsv//swe)
MEDICAL AND HEALTH SCIENCES -- Basic Medicine (hsv//eng)

syndromic intellectual disability type Nascimento
deletion Xq24
UBE2A
heart defects
CXorf56
LINKED MENTAL-RETARDATION
B-REPRESSING FACTOR
NF-KAPPA-B
INTELLECTUAL
DISABILITY
IDENTIFICATION
MUTATIONS
PROMOTER
NRF
Genetics & Heredity
syndromic intellectual disability type Nascimento; deletion Xq24; UBE2A; heart defects; CXorf56

By the author/editor: Thunstrom, S.; Södermark, Liv; Ivarsson, L.; Samuelsson, Lena ...; Stefanova, Marga ...

About the subject

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