Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome

Nadja Ehmke; Almuth Caliebe; Rainer Koenig; Sarina G. Kant; Zornitza Stark; Valérie Cormier-Daire; Dagmar Wieczorek; Gabriele Gillessen-Kaesbach; Kirstin Hoff; Amit Kawalia; Holger Thiele; Janine Altmüller; Björn Fischer-Zirnsak; Alexej Knaus; Na Zhu; Verena Heinrich; Celine Huber; Izabela Harabula; Malte Spielmann; Denise Horn; Uwe Kornak; Jochen Hecht; Peter M. Krawitz; Peter Nürnberg; Reiner Siebert; Hermann Manzke; Stefan Mundlos

doi:10.1016/j.ajhg.2014.11.004

Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome

Nadja Ehmke^*, Almuth Caliebe, Rainer Koenig, Sarina G. Kant, Zornitza Stark, Valérie Cormier-Daire, Dagmar Wieczorek, Gabriele Gillessen-Kaesbach, Kirstin Hoff, Amit Kawalia, Holger Thiele, Janine Altmüller, Björn Fischer-Zirnsak, Alexej Knaus, Na Zhu, Verena Heinrich, Celine Huber, Izabela Harabula, Malte Spielmann, Denise HornUwe Kornak, Jochen Hecht, Peter M. Krawitz, Peter Nürnberg, Reiner Siebert, Hermann Manzke, Stefan Mundlos

^*Korrespondierende/r Autor/-in für diese Arbeit

43 Zitate (Scopus)

Abstract

Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270-271del (p.Lys91Asnfs∗22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.

Originalsprache	Englisch
Zeitschrift	American Journal of Human Genetics
Jahrgang	95
Ausgabenummer	6
Seiten (von - bis)	763-770
Seitenumfang	8
ISSN	0002-9297
DOIs	https://doi.org/10.1016/j.ajhg.2014.11.004
Publikationsstatus	Veröffentlicht - 01.01.2014

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10.1016/j.ajhg.2014.11.004

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Ehmke, N., Caliebe, A., Koenig, R., Kant, S. G., Stark, Z., Cormier-Daire, V., Wieczorek, D., Gillessen-Kaesbach, G., Hoff, K., Kawalia, A., Thiele, H., Altmüller, J., Fischer-Zirnsak, B., Knaus, A., Zhu, N., Heinrich, V., Huber, C., Harabula, I., Spielmann, M., ... Mundlos, S. (2014). Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome. American Journal of Human Genetics, 95(6), 763-770. https://doi.org/10.1016/j.ajhg.2014.11.004

@article{832985b0c97d4fa09c60f3eb92a6bedb,

title = "Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome",

abstract = "Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270-271del (p.Lys91Asnfs∗22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.",

author = "Nadja Ehmke and Almuth Caliebe and Rainer Koenig and Kant, \{Sarina G.\} and Zornitza Stark and Val{\'e}rie Cormier-Daire and Dagmar Wieczorek and Gabriele Gillessen-Kaesbach and Kirstin Hoff and Amit Kawalia and Holger Thiele and Janine Altm{\"u}ller and Bj{\"o}rn Fischer-Zirnsak and Alexej Knaus and Na Zhu and Verena Heinrich and Celine Huber and Izabela Harabula and Malte Spielmann and Denise Horn and Uwe Kornak and Jochen Hecht and Krawitz, \{Peter M.\} and Peter N{\"u}rnberg and Reiner Siebert and Hermann Manzke and Stefan Mundlos",

year = "2014",

month = jan,

day = "1",

doi = "10.1016/j.ajhg.2014.11.004",

language = "English",

volume = "95",

pages = "763--770",

journal = "American Journal of Human Genetics",

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Ehmke, N, Caliebe, A, Koenig, R, Kant, SG, Stark, Z, Cormier-Daire, V, Wieczorek, D, Gillessen-Kaesbach, G, Hoff, K, Kawalia, A, Thiele, H, Altmüller, J, Fischer-Zirnsak, B, Knaus, A, Zhu, N, Heinrich, V, Huber, C, Harabula, I, Spielmann, M, Horn, D, Kornak, U, Hecht, J, Krawitz, PM, Nürnberg, P, Siebert, R, Manzke, H & Mundlos, S 2014, 'Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome', American Journal of Human Genetics, Jg. 95, Nr. 6, S. 763-770. https://doi.org/10.1016/j.ajhg.2014.11.004

TY - JOUR

T1 - Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome

AU - Ehmke, Nadja

AU - Caliebe, Almuth

AU - Koenig, Rainer

AU - Kant, Sarina G.

AU - Stark, Zornitza

AU - Cormier-Daire, Valérie

AU - Wieczorek, Dagmar

AU - Gillessen-Kaesbach, Gabriele

AU - Hoff, Kirstin

AU - Kawalia, Amit

AU - Thiele, Holger

AU - Altmüller, Janine

AU - Fischer-Zirnsak, Björn

AU - Knaus, Alexej

AU - Zhu, Na

AU - Heinrich, Verena

AU - Huber, Celine

AU - Harabula, Izabela

AU - Spielmann, Malte

AU - Horn, Denise

AU - Kornak, Uwe

AU - Hecht, Jochen

AU - Krawitz, Peter M.

AU - Nürnberg, Peter

AU - Siebert, Reiner

AU - Manzke, Hermann

AU - Mundlos, Stefan

PY - 2014/1/1

Y1 - 2014/1/1

N2 - Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270-271del (p.Lys91Asnfs∗22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.

AB - Catel-Manzke syndrome is characterized by Pierre Robin sequence and a unique form of bilateral hyperphalangy causing a clinodactyly of the index finger. We describe the identification of homozygous and compound heterozygous mutations in TGDS in seven unrelated individuals with typical Catel-Manzke syndrome by exome sequencing. Six different TGDS mutations were detected: c.892A>G (p.Asn298Asp), c.270-271del (p.Lys91Asnfs∗22), c.298G>T (p.Ala100Ser), c.294T>G (p.Phe98Leu), c.269A>G (p.Glu90Gly), and c.700T>C (p.Tyr234His), all predicted to be disease causing. By using haplotype reconstruction we showed that the mutation c.298G>T is probably a founder mutation. Due to the spectrum of the amino acid changes, we suggest that loss of function in TGDS is the underlying mechanism of Catel-Manzke syndrome. TGDS (dTDP-D-glucose 4,6-dehydrogenase) is a conserved protein belonging to the SDR family and probably plays a role in nucleotide sugar metabolism.

UR - https://www.scopus.com/pages/publications/84919660312

U2 - 10.1016/j.ajhg.2014.11.004

DO - 10.1016/j.ajhg.2014.11.004

M3 - Journal articles

C2 - 25480037

AN - SCOPUS:84919660312

SN - 0002-9297

VL - 95

SP - 763

EP - 770

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 6

ER -

Homozygous and compound-heterozygous mutations in TGDS cause catel-manzke syndrome

Abstract

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