Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
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Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region. / Schönewolf-Greulich, Bitten; Ronan, Anne; Ravn, Kristine; Baekgaard, Peter; Lodahl, Marianne; Nielsen, Kate; Rendtorff, Nanna D; Tranebjaerg, Lisbeth; Brøndum-Nielsen, Karen; Tümer, Zeynep.
I: American Journal of Medical Genetics. Part A, Bind 155A, Nr. 12, 2011, s. 2964-9.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region
AU - Schönewolf-Greulich, Bitten
AU - Ronan, Anne
AU - Ravn, Kristine
AU - Baekgaard, Peter
AU - Lodahl, Marianne
AU - Nielsen, Kate
AU - Rendtorff, Nanna D
AU - Tranebjaerg, Lisbeth
AU - Brøndum-Nielsen, Karen
AU - Tümer, Zeynep
N1 - Copyright © 2011 Wiley Periodicals, Inc.
PY - 2011
Y1 - 2011
N2 - Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities. In this report, we describe two new 17q23.2 deletion patients with mild intellectual disability and sensorineural hearing loss. They both had submicroscopic deletions smaller than the common deleted region for the 8 previously described 17q23.2 microdeletion cases. TBX4 was previously suggested as the responsible gene for the heart or limb defects observed in 17q23.2 deletion patients, but the present cases do not have these features despite deletion of this gene. The finding of sensorineural hearing loss in 5 of the 10 cases, including the present cases, with a microdeletion at17q23.2, strongly suggests the presence of a candidate gene for hearing loss within this region. We screened 41 patients with profound sensorineural hearing loss for mutations of TBX2 and detected no mutations.
AB - Microdeletion of the 17q23.2 region has very recently been suggested as a new emerging syndrome based on the finding of 8 cases with common phenotypes including mild-to-moderate developmental delay, heart defects, microcephaly, postnatal growth retardation, and hand, foot, and limb abnormalities. In this report, we describe two new 17q23.2 deletion patients with mild intellectual disability and sensorineural hearing loss. They both had submicroscopic deletions smaller than the common deleted region for the 8 previously described 17q23.2 microdeletion cases. TBX4 was previously suggested as the responsible gene for the heart or limb defects observed in 17q23.2 deletion patients, but the present cases do not have these features despite deletion of this gene. The finding of sensorineural hearing loss in 5 of the 10 cases, including the present cases, with a microdeletion at17q23.2, strongly suggests the presence of a candidate gene for hearing loss within this region. We screened 41 patients with profound sensorineural hearing loss for mutations of TBX2 and detected no mutations.
KW - Child
KW - Child, Preschool
KW - Chromosome Deletion
KW - Chromosomes, Human, Pair 17
KW - Comparative Genomic Hybridization
KW - Female
KW - Hearing Loss, Sensorineural
KW - Humans
KW - Infant
KW - Polymorphism, Single Nucleotide
KW - T-Box Domain Proteins
U2 - 10.1002/ajmg.a.34302
DO - 10.1002/ajmg.a.34302
M3 - Journal article
C2 - 22052739
VL - 155A
SP - 2964
EP - 2969
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
SN - 1552-4825
IS - 12
ER -
ID: 38380744