Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Chow, Yock-Ping; Abdul Murad, Nor Azian; Mohd Rani, Zamzureena; Khoo, Jia-Shiun; Chong, Pei-Sin; Wu, Loo-Ling; Jamal, Rahman

doi:10.1186/s13023-017-0575-7

Orphanet Journal of Rare Diseases

Table 2 List of homozygous and compound heterozygous variants detected in this study

From: Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family

Mutation	Mutation Type	Elder sister	Younger sister	Father	Mother
Mutations shared by two affected siblings
LDB3: ENST00000429277:c.1384C > A:p.Pro462Thr	Hom	AA	AA	CA	CA
DUOX2: ENST00000603300:c.1588A > T:p.Lys530*	CompHet	TA	TA	TA	TT
DUOX2: ENST00000603300:c.3329G > A:p.Arg1110Gln	CompHet	CT	CT	CC	CT
COL22A1: ENST00000303045:c.923A > G:p.Glu308Gly	CompHet	TC	TC	TC	TT
COL22A1: ENST00000303045:c.2101A > G:p.Met701Val	CompHet	TC	TC	TT	TC
Mutations detected in elder sister only
TECPR2: c.1477C > T:p.Pro493Ser	CompHet	CT	CC	CT	CC
TECPR2: c.1457C > T:p.S486Leu	CompHet	CT	CT	CC	CT
CHRD: c.2261C > G:p.Ala754Gly	CompHet	CG	CC	CG	CC
CHRD: c.993G > C:p.Gln331His	CompHet	GC	GG	GG	GC
CYP4V2: ENST00000378802:c.237G > T:p.Gln79Asp	CompHet	GT	GG	GT	GG
CYP4V2: ENST00000378802:c.367A > G:p.Met123Val	CompHet	AG	AA	AG	AA
CYP4V2: ENST00000378802:c.780C > G:p.Ile260Met	CompHet	CG	CG	CC	CG
RAPGEF6: ENST00000509018:c.664C > T:p.Arg222Cys	CompHet	GA	GG	GA	GG
RAPGEF6: ENST00000509018:c.1963A > G:p.Thr655Ala	CompHet	TC	TT	TT	TC
MUC22: ENST00000561890:c.2998_299AC	CompHet	GA/AC	GA_HOM	GA-HOM	GA/AC
MUC22: ENST00000561890:c.3441_3442AG	CompHet	CA/AG	CA/AG	CA/AG	CA_HOM
MUC22: ENST00000561890:c.3493A > C:p.I1165Leu	CompHet	AC	AC	AC	AA
Mutations detected in younger sister only
CR1: ENST00000367049:c.7310 T > C:p.Leu2437Pro	CompHet	TC	TC	TC	TT
CR1: ENST00000367049:c.6919G > A:p.Gly2307Arg	CompHet	GG	GA	GG	GA
MUC16: ENST00000397910:c.38825A > G:p.Gln12942Arg	CompHet	TT	TC	TC	TT
MUC16: ENST00000397910:c.11458A > G:p.T3820Ala	CompHet	TT	TC	TT	TC
MUC16: ENST00000397910:c.7201G > T:p.Ala2401Ser	CompHet	CC	CA	CA	CC
FRAS1: ENST00000264895:c.1471C > T:p.R491Trp	CompHet	CT	CT	CC	CT
FRAS1: ENST00000264895:c.11893A > G:p.Asn3965Asp	CompHet	AA	AG	AG	AA

Abbreviations: Hom homozygous, CompHet compound heterozygous

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ISSN: 1750-1172

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