Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome

Corona‐Rivera, Jorge Román; Corona-Rivera, E.; Corona‐Rivera, Alfredo; Quiles-Corona, Moisés; Velez-Gómez, Ezequiel; Arana-Gutierrez, M. A.

doi:10.1002/(sici)1096-8628(19990702)85:1<79::aid-ajmg13>3.0.co;2-n

Cited by 9 publications

(3 citation statements)

References 5 publications

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“…The skewed X inactivation in the affected females of this family is in agreement with X‐linked inheritance and suggests an important role of the Melnick‐Needles gene in hematopoietic cell proliferation. Clinical evidence indicates that Melnick‐Needles syndrome is allelic to the otopalatodigital syndromes [Nishimura et al, 1997; Robertson et al, 1997; Corona‐Rivera et al, 1999; Verloes et al, 2000], which have been assigned to Xq26‐28 [Biancalana et al, 1991; Hoar et al, 1992; Robertson et al, 2001]. On the assumption that the mutation in the mother is located on the paternal, predominating inactive X chromosome, the findings in our family is in agreement with this assignment.…”

Section: Discussionmentioning

confidence: 99%

Fatigue in cancer patients compared with fatigue in the general United States population

Cella

Lai

Chang

et al. 2002

Cancer

698

523

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Melnick‐Needles syndrome is a rare putative X‐linked dominant bone dysplasia. The patients have short stature, characteristic facial features, and a normal intelligence. The skeletal dysplasia includes S‐shaped curvature of tubular bones and sclerosis of the base of the skull. The phenotype of affected individuals varies, even within families. This could be related to X chromosome inactivation. We report here on a very mildly affected mother and her two severely affected daughters with characteristic features of Melnick‐Needles syndrome. In addition, the two daughters had very similar pigmented nevi on their back. X chromosome inactivation analysis of blood DNA revealed a skewed X inactivation pattern in all three affected females, with the normal X chromosome as the predominating active X chromosome. The X inactivation pattern was similar in buccal smear and blood DNA in the mother and one of the daughters, whereas the other daughter had a skewed pattern in blood only. X chromosome inactivation in blood and buccal smear DNA therefore does not explain the phenotypic variation in this family. The skewed X chromosome inactivation is in agreement with X‐linked inheritance of Melnick‐Needles syndrome and suggests a critical role of the Melnick‐Needles gene in hematopoietic cell proliferation. Clinical evidence indicates that Melnick‐Needles syndrome is allelic to the otopalatodigital syndromes, which have been assigned to Xq26‐28. Haplotype analysis of the X chromosomes in this family was in agreement with the localization of the gene for Melnick‐Needles syndrome to Xq25‐qtel. © 2002 Wiley‐Liss, Inc.

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Section: Discussionmentioning

confidence: 99%

Fatigue in cancer patients compared with fatigue in the general United States population

Cella

Lai

Chang

et al. 2002

Cancer

698

523

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“…Combining OPD2 and MNS as a single disorder has been suggested by some [Blanchet et al, 1993; Holder and Winter, 1993; Verloes et al, 1996; Robertson et al, 1997; Corona Rivera et al, 1999] and contested by others [Young et al, 1993]. This hypothesis relies on genetic similarity, and on two clinical arguments: resemblance between unrelated cases with one or the other diagnosis, and presence of both phenotypes in the same family.…”

Section: Discussion and Reviewmentioning

confidence: 99%

Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

Verloes¹,

Lesenfants²,

Barr

et al. 2000

Am. J. Med. Genet.

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Otopalatodigital syndrome type 2 is an X-linked disorder with minimal expression in carrier females and comprises typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes, brachydactyly, and impaired survival. Recently several other severe malformations were reported in the condition. Melnick-Needles syndrome is an X-linked dominant disorder. Affected males are usually sporadic cases. The exceptional males born to symptomatic women present with a lethal disorder comprising generalized osteodysplasia, deficiency of the first ray, and facial anomalies strikingly similar to those of otopalatodigital syndrome type 2. We report here on three boys with classical, severe, and lethal otopalatodigital type 2 syndrome, and three boys with severe (lethal) Melnick-Needles syndrome, born to affected mothers. We suggest that otopalatodigital type 1 and 2, Melnick-Needles syndrome and frontometaphyseal dysplasia, sharing many clinical manifestations and a similar mode of inheritance, are variants of the same condition: fronto-otopalatodigital osteodysplasia. The relationships to similar syndromes (i.e., Saint-Martin-Gardner-Morrisson syndrome, serpentine fibula syndrome, atelosteogenesis type 3, boomerang dysplasia, and Yunis-Varon syndrome) are discussed.

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“…MNS is a rare osteodysplasia presumed to be lethal in males and characterized by short stature, severe skeletal dysplasia, sclerosis of the base of the skull, and chest deformities [Melnick and Needles, 1966; von Oeyen et al, 1982]. Based on this clinical overlap, several authors have proposed that OPD1, OPD2, and MNS are alternative manifestations of the same molecular defect, that is, allelic disorders [Robertson et al, 1997; Corona‐Rivera et al, 1999; Verloes et al, 2000; Robertson et al, 2001].…”

Section: Introductionmentioning

confidence: 99%

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

Hidalgo‐Bravo

Pompa-Mera

Kofman‐Alfaro

et al. 2005

American J of Med Genetics Pt A

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Otopalatodigital syndrome type 1 (OPD1) [OMIM 311300] is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate, and typical facial anomalies. OPD1 belongs to a group of X-linked skeletal dysplasias known as oto-palato-digital syndrome spectrum disorders that also include OPD2, Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). Recently, it has been demonstrated that mutations in the gene encoding the cytoskeletal protein Filamin A (FLNA) are responsible for this group of clinically overlapping human syndromes. We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. X-inactivation analyses demonstrated an extremely skewed pattern towards her maternal chromosome. Our results add to the molecular spectrum of the oto-palato-digital related syndromes and contribute to the delineation of phenotype-genotype correlation in this group of X-linked skeletal disorders.

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Infant with manifestations of oto-palato-digital syndrome type II and of Melnick-Needles syndrome

Cited by 9 publications

References 5 publications

Fatigue in cancer patients compared with fatigue in the general United States population

Fatigue in cancer patients compared with fatigue in the general United States population

Fronto-otopalatodigital osteodysplasia: Clinical evidence for a single entity encompassing Melnick-Needles syndrome, otopalatodigital syndrome types 1 and 2, and frontometaphyseal dysplasia

A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation

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