RESUMO
Split hand/split foot malformation (SHFM), which typically appears as lobster-like limb malformation, is a rare clinical condition caused by a partial deletion of chromosome 7q. Hearing impairment sometimes accompanies syndromic SHFM cases; a case of inner and middle ear malformation with SHFM is described in this report. We conducted a genetic evaluation of this patient and found a deleted region that overlaps a previously reported locus of SHFM as well as a DFNB14 locus that can cause nonsyndromic hearing impairment by autosomal recessive inheritance.
Assuntos
Mapeamento Cromossômico , Deformidades Congênitas do Pé/genética , Deformidades Congênitas da Mão/genética , Perda Auditiva/genética , Anormalidades Múltiplas/genética , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 7 , Orelha Média/anormalidades , Humanos , MasculinoRESUMO
The presence of additional handicaps in hearing-impaired children makes the prediction of language ability after cochlear implantation unreliable. Only limited follow-up data on developmental improvement after implantation among multiply handicapped children is available. The present study reports the course of development (audiological and linguistic) after cochlear implantation in one subject with moderate mental retardation. Preoperatively, his language development showed 34 months delay when compared to chronological age. The difference had shortened to 23 months by 2 years post-surgery. The subject's cognitive delay had not changed upon 2-year follow-up. The cochlear implant can be credited to his improvement in language development.
Assuntos
Implante Coclear , Perda Auditiva/etiologia , Perda Auditiva/cirurgia , Deficiência Intelectual/complicações , Transtornos do Desenvolvimento da Linguagem/etiologia , Criança , Pré-Escolar , Perda Auditiva/fisiopatologia , Humanos , Lactente , Deficiência Intelectual/fisiopatologia , Deficiência Intelectual/cirurgia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/cirurgia , Masculino , Recuperação de Função Fisiológica/fisiologia , Fatores de Tempo , Resultado do TratamentoRESUMO
OBJECTIVES: Mutations in connexin26 (GJB2) are one of the most frequent causes of prelingual hearing impairment. Several different types of one-base deletions in exon2 were the most common type of GJB2 mutation regardless of ethnicity, including 35delG in American-European populations, 235delC in Japanese population and 167delT in Ashkenazi Jewish population. Various types of one-base substitutions were also considered to be causative mutations of GJB2 associated hearing impairment. This article describes a rapid and high-throughput screening procedure for the detection of one-base deletion/substitution in GJB2 with less invasive sampling procedure in the implication for the clinical application. METHODS: 53 hearing-impaired children and 50 healthy controls were admitted to take part in this study program. DNA samples obtained from buccal swab were used to amplify the exon2 of GJB2, and single run with an automated sequencer was used to identify the one-base deletion. Single-base substitutions were also screened by primer-extension procedure with dye terminators. The presence of both types of mutations was confirmed by direct sequence of the GJB2 exon2. RESULTS: Two of 50 controls (4%) included one-base deletion in GJB2 as heterozygote. 14 of 53 hearing impaired cases (26.4%) contained deletion in GJB2 either as homozygote (five cases) or heterozygote (nine cases) form. Sequencing analysis of whole exon2 of GJB2 identified all these deletions as 235delC. Primer-extension analysis revealed additional mutations with single base substitutions in three cases with compound heterozygote with 235delC. CONCLUSIONS: Rapid screening procedure of GJB2 can be potentially useful for the identification of prelingual deafness.