Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

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 - 2011/12

Y1 - 2011/12

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

SN - 1552-4825

VL - 155A

SP - 2964

EP - 2969

JO - American Journal of Medical Genetics, Part A

JF - American Journal of Medical Genetics, Part A

IS - 12

ER -