LymphedemaV1, Main, Exploration, bibRecord, 001551

FAM111B MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION

Identifieur interne : 001551 ( Main/Exploration ); précédent : 001550; suivant : 001552

FAM111B MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION

Auteurs : Aaron Seo ; Tom Walsh ; Ming Lee ; Phoenix Ho ; Evelyn Kanyu Hsu ; Robert Sidbury ; Mary-Claire King ; Akiko Shimamura

Source :

Pancreas [ 0885-3177 ] ; 2016.

RBID : PMC:4841754

Abstract

Objectives

Few genetic causes of exocrine pancreatic dysfunction have been described to date. We identified a family with multiple affected members manifesting exocrine pancreatic dysfunction. Additional associated features included facial rash, sparse hair, hypohidrosis, and swelling of the extremities. The transmission pattern of these clinical features was consistent with an autosomal dominant mode of inheritance. The two proband siblings also had transient elevated liver transaminases with hepatic steatosis early in life. This study identifies the genetic cause of exocrine pancreatic dysfunction in this family.

Methods

Whole exome sequencing was performed to identify the genetic cause of exocrine pancreatic dysfunction.

Results

A heterozygous germline in-frame deletion in the gene FAM111B (c.1261_1263delAAG, p.Lys421del) co-segregated with the phenotype: the variant was present in all affected relatives genotyped and absent in all unaffected relatives genotyped. The variant is also absent from public control sequence databases.

Conclusions

Our findings implicate FAM111B in autosomal dominantly inheritable exocrine pancreatic dysfunction.

Url:

http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4841754

DOI: 10.1097/MPA.0000000000000529
PubMed: 26495788
PubMed Central: 4841754

Affiliations:

Le document en format XML

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 MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION</title>
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 MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION</title>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Objectives</title>
<p id="P1">Few genetic causes of exocrine pancreatic dysfunction have been described to date. We identified a family with multiple affected members manifesting exocrine pancreatic dysfunction. Additional associated features included facial rash, sparse hair, hypohidrosis, and swelling of the extremities. The transmission pattern of these clinical features was consistent with an autosomal dominant mode of inheritance. The two proband siblings also had transient elevated liver transaminases with hepatic steatosis early in life. This study identifies the genetic cause of exocrine pancreatic dysfunction in this family.</p>
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<sec id="S2"><title>Methods</title>
<p id="P2">Whole exome sequencing was performed to identify the genetic cause of exocrine pancreatic dysfunction.</p>
</sec>
<sec id="S3"><title>Results</title>
<p id="P3">A heterozygous germline in-frame deletion in the gene <italic>FAM111B</italic>
 (<italic>c.1261_1263delAAG,</italic>
 p.Lys421del) co-segregated with the phenotype: the variant was present in all affected relatives genotyped and absent in all unaffected relatives genotyped. The variant is also absent from public control sequence databases.</p>
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 in autosomal dominantly inheritable exocrine pancreatic dysfunction.</p>
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<name sortKey="King, Mary Claire" sort="King, Mary Claire" uniqKey="King M" first="Mary-Claire" last="King">Mary-Claire King</name>
<name sortKey="Lee, Ming" sort="Lee, Ming" uniqKey="Lee M" first="Ming" last="Lee">Ming Lee</name>
<name sortKey="Seo, Aaron" sort="Seo, Aaron" uniqKey="Seo A" first="Aaron" last="Seo">Aaron Seo</name>
<name sortKey="Shimamura, Akiko" sort="Shimamura, Akiko" uniqKey="Shimamura A" first="Akiko" last="Shimamura">Akiko Shimamura</name>
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FAM111B MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION

FAM111B MUTATION IS ASSOCIATED WITH INHERITED EXOCRINE PANCREATIC DYSFUNCTION

Source :

Abstract

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Le document en format XML

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