Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malform...Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves Ⅴ through Ⅻ underlines the disease pathogenesis. Although a genetic etiology for Moebius syndrome was proposed, molecular genetic studies to identify the causative gene（s） are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPψg-BASP1, which is located on chromosome 13q flanking the putative locus for Moebius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Moebius syndrome.展开更多
Background:Ataxia telangiectasia (AT) is a genetically based multisystemic disorder.We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patien...Background:Ataxia telangiectasia (AT) is a genetically based multisystemic disorder.We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients.Methods:Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively.Results:Forty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were evaluated.The mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.6144.11 months,respectively.Neurological abnormalities were progressive truncal ataxia,nystagmus,dysarthria,oculomotor apraxia and choreoathetosis.Thirty one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 years.Eleven patients (12.1%) became bedridden by a mean age of 14.7±1.8 years.Cranial magnetic resonance imaging revealed pathological findings in 47/66 patients.Abnormal immunological parameters were determined in 51/91 patients:immunoglobulin (Ig)A deficiency (n=38),lymphopenia (n=30),IgG (n=15) and IgG2 (n=11) deficiency.Occurrence of recurrent sinopulmonary infections (n=45) and bronchiectasis (n=22) were found to be more common in patients with impaired immunological parameters (P=0.029and P=0.023,respectively).Malignancy developed in 5 patients,being mostly lymphoreticular in origin and resulted in death of 4 patients.Conclusions:AT is a long lasting disease with muitisystem involvement necessitating multidisciplinary follow up,as described in our cohort.Early diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.展开更多
基金supported by the Research Fund of the Istanbul University, Turkey (No. 480 [2359/2006])
文摘Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves Ⅴ through Ⅻ underlines the disease pathogenesis. Although a genetic etiology for Moebius syndrome was proposed, molecular genetic studies to identify the causative gene（s） are scarce. In this study, we selected two candidate genes. One is BASP1 residing in a human chromosome 5p15.1-p15.2, syntenic to mouse chromosome 15qA2-qB2, to which a mouse model with facial nerve anomalies was mapped. The other is transcribed processed pseudogene TPψg-BASP1, which is located on chromosome 13q flanking the putative locus for Moebius syndrome and might be involved in the regulation of the transcripts encoded by BASP1. Mutation analyses in nineteen patients excluded these genes as being candidates for Moebius syndrome.
文摘Background:Ataxia telangiectasia (AT) is a genetically based multisystemic disorder.We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients.Methods:Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively.Results:Forty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were evaluated.The mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.6144.11 months,respectively.Neurological abnormalities were progressive truncal ataxia,nystagmus,dysarthria,oculomotor apraxia and choreoathetosis.Thirty one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 years.Eleven patients (12.1%) became bedridden by a mean age of 14.7±1.8 years.Cranial magnetic resonance imaging revealed pathological findings in 47/66 patients.Abnormal immunological parameters were determined in 51/91 patients:immunoglobulin (Ig)A deficiency (n=38),lymphopenia (n=30),IgG (n=15) and IgG2 (n=11) deficiency.Occurrence of recurrent sinopulmonary infections (n=45) and bronchiectasis (n=22) were found to be more common in patients with impaired immunological parameters (P=0.029and P=0.023,respectively).Malignancy developed in 5 patients,being mostly lymphoreticular in origin and resulted in death of 4 patients.Conclusions:AT is a long lasting disease with muitisystem involvement necessitating multidisciplinary follow up,as described in our cohort.Early diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.
