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X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum

X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum
Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MIDI, encodes a protein containing a RING-Bbox-Coiled-coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MIDI gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X-linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3' region. By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo-tracheo-esophageal (LTE) defects are also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1-mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype.
opitz syndrome, mid, midline defects, x-chromosome
1552-4825
222-228
De Falco, Francesca
c26d8162-a202-41f5-96f1-2856173f7e6b
Cainarca, Silvia
b8775b88-3ad2-42cf-bca3-c668f44896cb
Andolfi, Grazia
6076c13e-5f11-4867-a10f-b5661c701ea8
Ferrentino, Rosa
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Berti, Caterina
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Criado, German Rodríguez
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Rittinger, Olaf
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Dennis, Nick
154aa617-52e2-4711-98ef-89fef8610de7
Odent, Sylvie
b13a685f-8bc6-4193-b805-462b6a76f4ad
Rastogi, Amit
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Liebelt, Jan
ffd9b9ab-7c6f-4d7e-b9d5-c219e8f6bfee
Chitayat, David
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Winter, Robin
d6bc522f-861c-44b5-b823-972e2c2a8d56
Jawanda, Harinder
b8084341-b0f2-4a42-9538-83aa87f9f011
Ballabio, Andrea
1cf435be-4dba-4d0f-a67b-6cbb8469f7fb
Franco, Brunella
3e825c7e-9b09-4c23-bf27-5b77690f7a99
Meroni, Germana
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De Falco, Francesca
c26d8162-a202-41f5-96f1-2856173f7e6b
Cainarca, Silvia
b8775b88-3ad2-42cf-bca3-c668f44896cb
Andolfi, Grazia
6076c13e-5f11-4867-a10f-b5661c701ea8
Ferrentino, Rosa
eada1c68-1744-47f9-98e8-8a13efe1f74d
Berti, Caterina
1c1617a7-839d-4706-be95-2111b063ff90
Criado, German Rodríguez
30afd2f9-334e-4987-bdf2-06ff5d156915
Rittinger, Olaf
45c66235-c1df-4249-970b-9a1b1b7b0e6f
Dennis, Nick
154aa617-52e2-4711-98ef-89fef8610de7
Odent, Sylvie
b13a685f-8bc6-4193-b805-462b6a76f4ad
Rastogi, Amit
7e12dce5-cdc4-48b5-9382-52f20149d039
Liebelt, Jan
ffd9b9ab-7c6f-4d7e-b9d5-c219e8f6bfee
Chitayat, David
58df0be6-ca8f-43a1-91b0-960b4bd27376
Winter, Robin
d6bc522f-861c-44b5-b823-972e2c2a8d56
Jawanda, Harinder
b8084341-b0f2-4a42-9538-83aa87f9f011
Ballabio, Andrea
1cf435be-4dba-4d0f-a67b-6cbb8469f7fb
Franco, Brunella
3e825c7e-9b09-4c23-bf27-5b77690f7a99
Meroni, Germana
f1755348-35f7-4e5f-a338-d01b0ffc46bc

De Falco, Francesca, Cainarca, Silvia, Andolfi, Grazia, Ferrentino, Rosa, Berti, Caterina, Criado, German Rodríguez, Rittinger, Olaf, Dennis, Nick, Odent, Sylvie, Rastogi, Amit, Liebelt, Jan, Chitayat, David, Winter, Robin, Jawanda, Harinder, Ballabio, Andrea, Franco, Brunella and Meroni, Germana (2003) X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. American Journal of Medical Genetics part A, 120A (2), 222-228. (doi:10.1002/ajmg.a.10265).

Record type: Article

Abstract

Opitz (or G/BBB) syndrome is a pleiotropic genetic disorder characterized by hypertelorism, hypospadias, and additional midline defects. This syndrome is heterogeneous with an X-linked (XLOS) and an autosomal dominant (ADOS) form. The gene implicated in the XLOS form, MIDI, encodes a protein containing a RING-Bbox-Coiled-coil motif belonging to the tripartite motif (TRIM) family. To further clarify the molecular basis of XLOS, we have undertaken mutation analysis of the MIDI gene in patients with Opitz syndrome (OS). We found novel mutations in 11 of 63 male individuals referred to us as sporadic or familial X-linked OS cases. The mutations are scattered throughout the gene, although more are represented in the 3' region. By reviewing all the MID1-mutated OS patients so far described, we confirmed that hypertelorism and hypospadias are the most frequent manifestations, being present in almost every XLOS individual. However, it is clear that laryngo-tracheo-esophageal (LTE) defects are also common anomalies, being manifested by all MID1-mutated male patients. Congenital heart and anal abnormalities are less frequent than reported in literature. In addition, we can include limb defects in the OS clinical synopsis as we found a MID1-mutated patient showing syndactyly. The low frequency of mutations in MID1 and the high variability of the phenotype suggest the involvement of other genes in the OS phenotype.

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More information

Published date: 15 July 2003
Keywords: opitz syndrome, mid, midline defects, x-chromosome

Identifiers

Local EPrints ID: 59670
URI: http://eprints.soton.ac.uk/id/eprint/59670
ISSN: 1552-4825
PURE UUID: 84a412ac-4622-4fc2-b2ca-d8f91648ceea

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Date deposited: 04 Sep 2008
Last modified: 27 Apr 2022 07:35

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Contributors

Author: Francesca De Falco
Author: Silvia Cainarca
Author: Grazia Andolfi
Author: Rosa Ferrentino
Author: Caterina Berti
Author: German Rodríguez Criado
Author: Olaf Rittinger
Author: Nick Dennis
Author: Sylvie Odent
Author: Amit Rastogi
Author: Jan Liebelt
Author: David Chitayat
Author: Robin Winter
Author: Harinder Jawanda
Author: Andrea Ballabio
Author: Brunella Franco
Author: Germana Meroni

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