ID

45312

Description

Principal Investigator: Terri H. Beaty, PhD, Johns Hopkins University School of Public Health, Baltimore, MD, USA MeSH: Cleft Lip,Cleft Palate,Congenital Abnormalities,Stomatognathic System Abnormalities https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000459 Building upon our previous linkage and association studies, we will use whole exome sequencing studies of second and third degree affected relatives drawn from multiplex families. Our specific aims are: 1) To conduct whole exome sequencing on affected members (2° and 3° relatives) drawn from multiplex cleft families from a consortium to identify novel genes causing non-syndromic oral clefts; 2) To confirm and test the role of rare variants in these novel genes through confirmatory Sanger sequencing, plus linkage information using additional members available in these multiplex families. This whole exome sequencing approach will combine evidence from linkage studies and large scale sequencing to identify novel genes causing oral clefts in multiplex cleft families.

Link

dbGaP study = phs000459

Keywords

Versions (1)
  1. 10/23/22 10/23/22 - Adrian Schulz
Copyright Holder

Terri H. Beaty, PhD, Johns Hopkins University School of Public Health, Baltimore, MD, USA

Uploaded on

October 23, 2022

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Creative Commons BY 4.0
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dbGaP phs000459 CIDR Whole Exome sequencing of multiplex cleft families

English

Eligibility Criteria

5 forms  
Inclusion and exclusion criteria
Description

Inclusion and exclusion criteria

Alias
UMLS CUI [1,1]
C1512693
UMLS CUI [1,2]
C0680251
All affected individuals were identified as having an isolated, non-syndromic oral cleft in the initial recruitment visit, although mis-classification is always possible. All families were reviewed by experienced geneticist(s) and there was no evidence of recognized Mendelian forms of oral clefts (e.g. Vander Woude syndrome), but even this level of phenotypic review can miss some forms of recognized Mendelian syndromes.
Description

Elig.phs000459.v1.p1.1

Data type

boolean

Alias
UMLS CUI [1,1]
C3846158
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Similar models

Eligibility Criteria

5 forms
Name
Type
Description | Question | Decode (Coded Value)
Data type
Alias
Item Group
Inclusion and exclusion criteria
C1512693 (UMLS CUI [1,1])
C0680251 (UMLS CUI [1,2])
Elig.phs000459.v1.p1.1
Item
All affected individuals were identified as having an isolated, non-syndromic oral cleft in the initial recruitment visit, although mis-classification is always possible. All families were reviewed by experienced geneticist(s) and there was no evidence of recognized Mendelian forms of oral clefts (e.g. Vander Woude syndrome), but even this level of phenotypic review can miss some forms of recognized Mendelian syndromes.
boolean
C3846158 (UMLS CUI [1,1])
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