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A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.

Abstract Pure hair and nail ectodermal dysplasia (PHNED) is a congenital disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and dominant inheritance fashion of PHNED occurs. In literature, to date, five different forms of PHNED have been reported at molecular level, having three genes known and two loci with no gene yet.
PMID
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Authors

Mayor MeshTerms
Keywords

HOXC13

Mutation

PHNED

Pakistani family

Journal Title bmc medical genetics
Publication Year Start




PMID- 28403827
OWN - NLM
STAT- In-Process
DA  - 20170413
LR  - 20170413
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Apr 12
TI  - A novel mutation in homeobox DNA binding domain of HOXC13 gene underlies pure
      hair and nail ectodermal dysplasia (ECTD9) in a Pakistani family.
PG  - 42
LID - 10.1186/s12881-017-0402-y [doi]
AB  - BACKGROUND: Pure hair and nail ectodermal dysplasia (PHNED) is a congenital
      disorder of hair abnormalities and nail dysplasia. Both autosomal recessive and
      dominant inheritance fashion of PHNED occurs. In literature, to date, five
      different forms of PHNED have been reported at molecular level, having three
      genes known and two loci with no gene yet. METHODS: In this study, a four
      generations consanguineous family of Pakistani origin with autosomal recessive
      PHNED was investigated. Affected members exhibited PHNED phenotypes with
      involvement of complete hair loss and nail dysplasia. To screen for mutation in
      the genes (HOXC13, KRT74, KRT85), its coding exons and exons-intron boundaries
      were sequenced. The 3D models of normal and mutated HOXC13 were predicted by
      using homology modeling. RESULTS: Through investigating the family to known loci,
      the family was mapped to ectodermal dysplasia 9 (ECTD9) loci with genetic address
      of 12q13.13. Mutation screening revealed a novel missense mutation (c.929A > C;
      p.Asn310Thr) in homeobox DNA binding domain of HOXC13 gene in affected members of
      the family. Due to mutation, loss of hydrogen bonding and difference in potential
      energy occurs, which may resulting in alteration of protein function. CONCLUSION:
      This is the first mutation reported in homeodomain, while 5th mutation reported
      in HOXC13 gene causing PHNED.
FAU - Khan, Anwar Kamal
AU  - Khan AK
AD  - Department of Biotechnology and Genetic Engineering, Kohat University of Science 
      and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
FAU - Muhammad, Noor
AU  - Muhammad N
AD  - Department of Biotechnology and Genetic Engineering, Kohat University of Science 
      and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
FAU - Aziz, Abdul
AU  - Aziz A
AD  - Department of Bioinformatics, Khushal Khan Khattak University, Karak, Pakistan.
FAU - Khan, Sher Alam
AU  - Khan SA
AD  - Department of Biotechnology and Genetic Engineering, Kohat University of Science 
      and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
FAU - Shah, Khadim
AU  - Shah K
AD  - Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam
      University, Islamabad, 45320, Pakistan.
FAU - Nasir, Abdul
AU  - Nasir A
AD  - Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam
      University, Islamabad, 45320, Pakistan.
FAU - Khan, Muzammil Ahmad
AU  - Khan MA
AD  - Gomal Centre of Biochemistry & Biotechnology, Gomal University, D.I.Khan,
      Pakistan.
FAU - Khan, Saadullah
AU  - Khan S
AD  - Department of Biotechnology and Genetic Engineering, Kohat University of Science 
      and Technology (KUST), Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
      [email protected]
LA  - eng
PT  - Journal Article
DEP - 20170412
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
OTO - NOTNLM
OT  - HOXC13
OT  - Mutation
OT  - PHNED
OT  - Pakistani family
EDAT- 2017/04/14 06:00
MHDA- 2017/04/14 06:00
CRDT- 2017/04/14 06:00
PHST- 2016/08/22 [received]
PHST- 2017/04/04 [accepted]
AID - 10.1186/s12881-017-0402-y [doi]
AID - 10.1186/s12881-017-0402-y [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Apr 12;18(1):42. doi: 10.1186/s12881-017-0402-y.

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