Journal article
Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
Clinical genetics, Vol.86(2), pp.142-148
08/2014
DOI: 10.1111/cge.12241
PMCID: PMC4103962
PMID: 23889335
Abstract
Peters Plus syndrome (PPS) is a rare autosomal-recessive disorder characterized by Peters anomaly of the eye, short stature, brachydactyly, dysmorphic facial features, developmental delay, and variable other systemic abnormalities. In this report we describe screening of 64 patients affected with PPS, isolated Peters anomaly and PPS-like phenotypes. Mutations in the coding region of
B3GALTL
were identified in nine patients; six had a documented phenotype of classic PPS and the remaining three had a clinical diagnosis of PPS with incomplete clinical documentation. A total of nine different pathogenic alleles were identified. Five alleles are novel including one frameshift, c.168dupA, p.(Gly57Argfs*11), one nonsense, c.1234C>T, p.(Arg412*), two missense, c.1045G>A, p.(Asp349Asn) and c.1181G>A, p.(Gly394Glu), and one splicing, c.347+5G>T, mutations. Consistent with previous reports, the c.660+1G>A mutation was the most common mutation identified, seen in eight of the nine patients and accounting for 55% of pathogenic alleles in this study and 69% of all reported pathogenic alleles; while two patients were homozygous for this mutation, the majority had a second rare pathogenic allele. We also report the absence of
B3GALTL
mutations in 55 cases of PPS-like phenotypes or isolated Peters anomaly, further establishing the strong association of
B3GALTL
mutations with classic PPS only.
Details
- Title: Subtitle
- Novel B3GALTL mutations in classic Peters Plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes
- Creators
- Eric Weh - Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WILinda M Reis - Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WIRebecca C Tyler - Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WIDavid Bick - Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WIWilliam J Rhead - Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WIStephanie Wallace - Department of Pediatrics, Seattle Children’s Hospital, Seattle, WATracy L McGregor - Department of Pediatrics, Vanderbilt University School of Medicine and the Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville, TNShelley K Dills - Carolinas Medical Center, Charlotte, NCMei-Chyn Chao - Department of Genome Medicine, College of Medicine, Kaohsiung Medical University Hospital, Kaohsiung, TaiwanJeffrey C Murray - Division of Genetics, Endocrinology and Metabolism, Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung, TaiwanElena V Semina - Department of Pediatrics and Children’s Research Institute at the Medical College of Wisconsin and Children’s Hospital of Wisconsin, Milwaukee, WI
- Resource Type
- Journal article
- Publication Details
- Clinical genetics, Vol.86(2), pp.142-148
- DOI
- 10.1111/cge.12241
- PMID
- 23889335
- PMCID
- PMC4103962
- NLM abbreviation
- Clin Genet
- ISSN
- 0009-9163
- eISSN
- 1399-0004
- Language
- English
- Date published
- 08/2014
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025340002771
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