Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9

Kant, Sarina G.; Polinkovsky, Alexander; Mundlos, Stefan; Zabel, Bernhard; Thomeer, R.T.W.M.; Zonderland, H M; Shih, Ling-yu; Haeringen, Arie van; Warman, Matthew L.

doi:10.1086/301917

Cited by 35 publications

(32 citation statements)

References 26 publications

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“…Today it is agreed that very likely these conditions are allelic forms of the same disorder. Many previous studies have shown that the short arm of chromosome 9 and in particular the region 9p12-p13 plays an important role in a large number of common diseases, such as acute lymphoblastic leukaemia, 11 non-Hodgkin's lymphoma, 12 lung cancer, 13 hepatocellular carcinoma (HCC), 14 as well as in rare diseases, such as arthrogryposis multiplex congenita, distal, type 1 (AMCD1), 15 acromesomeric dysplasia (AMDM), 16 cartilage hair hypoplasia (CHH), 17 and also in a form of distal hereditary motor neuropathy (HMN) found in Jerash. 18 At present, the availability of a precise physical map of chromosome 9p12-p13 is very restricted, and very few mapped genes have been identified in this region.…”

Section: Introductionmentioning

confidence: 99%

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

et al. 2001

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Hereditary inclusion body myopathy (HIBM) is a group of neuromuscular disorders characterised by adultonset, slowly progressive distal and proximal muscle weakness and typical muscle pathology. Previously, we have mapped the gene responsible for a recessive form of HIBM to chromosome 9p1 and narrowed the interval to one single YAC clone of 1 Mb in size. As a further step towards the identification of the HIBM gene, we have constructed a detailed physical and transcriptional map of this region. A high resolution BAC contig that includes the HIBM critical region, flanked by marker 327GT4 and D9S1859, was constructed. This contig allowed the precise localisation of 25 genes and ESTs to the proximal region of chromosome 9. The expression pattern of those mapped genes and ESTs was established by Northern blot analysis. In the process of refining the HIBM interval, 13 new polymorphic markers were identified, of which 11 are CA-repeats, and two are single nucleotide polymorphisms. Certainly, this map provides an important integration of physical and transcriptional information corresponding to chromosome 9p12-p13, which is expected to facilitate the cloning and identification not only of the HIBM gene, but also other disease genes which map to this region.

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Section: Introductionmentioning

confidence: 99%

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

et al. 2001

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“…The gene encodes a 1047 amino acid protein (Kant et al, 1998). The protein product of the NPR2 gene (natriuretic peptide receptor B) is a receptor for CNP.…”

Section: Discussionmentioning

confidence: 99%

“…The skull is usually dolichocephalic with shortness of the trunk and reduced vertebral height without any associated facial or mental abnormalities (Langer & Garrett, 1980). Kant et al (1998) mapped AMDM on human chromosome 9p21-p12. Bartels et al (2004) later reported 21 mutations in the NPR2 gene underlying AMDM in 21 different families.…”

Section: Introductionmentioning

confidence: 99%

Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families

Ullah

Umair

Khan

et al. 2015

Annals of Human Genetics

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SummaryAcromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide receptor B (NPR-B) that acts as an endogenous receptor for C-type natriuretic peptide (CNP). Both CNP and NPR-B are considered as important regulators of longitudinal growth. The study presented here investigated three consanguineous families (A, B, C) segregating AMDM in an autosomal recessive manner. Linkage in the families was established to the NPR2 gene on chromosome 9p12-21. Sequence analysis of the gene revealed two novel missense variants (p.Arg601Ser; p.Arg749Trp) in two families and a previously reported splice site variant (c.2986+2T>G) in the third family.

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“…In this syndrome, affected subjects are normal at birth, develop short-limbed (disproportionate) short stature in the subsequent 1–2 years and attain a final adult height of approximately 95–125 cm (3–4 feet) (fig. 2) [23, 24]. Apart from the skeletal system, no other organ system abnormality has been identified so far in humans [22].…”

Section: Genetic Evidence Linking Natriuretic Peptides With Skeletal mentioning

confidence: 99%

ABCs of Natriuretic Peptides: Growth

Espiner¹,

Prickett²,

Yandle³

et al. 2007

Horm Res Paediatr

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Background: Although they are better known for their cardiovascular and antiproliferative effects, natriuretic peptides also have been found to produce skeletal overgrowth in transgenic rodents. This finding has unmasked a novel paracrine role in endochondral bone growth for this family of hormones. Genetic studies in which key components in the C-type natriuretic peptide (CNP) signaling pathway are disrupted or overexpressed and spontaneous mutations in the CNP receptor in humans indicate that CNP plays a crucial role in determining postnatal skeletal elongation. CNP appears to promote expansion within several areas of the growth plate, but its effects are most obvious in the hypertrophic zone. Since its actions are largely paracrine in nature, new approaches are needed to study CNP’s role in vivo. CNP itself degrades rapidly, but amino-terminal pro-CNP (NT pro-CNP) escapes rapid degradation and can be readily detected in plasma. Methodology: Studies have been made of changes in CNP synthesis in humans and sheep by measuring NT pro-CNP levels. Plasma NT pro-CNP levels are markedly elevated in newborns, but fall progressively as growth velocity declines in both children and lambs. In keeping with these growth-related changes, CNP levels are inhibited by glucocorticoids and malnutrition in lambs and are stimulated by growth hormone and testosterone in adolescent boys. Further, levels fall abruptly in children receiving growth-suppressing chemotherapy regimens. Conclusions: Plasma NT pro-CNP levels may be an indicator of CNP synthesis within skeletal tissues and provide a much needed biomarker of linear growth, with applications for diagnosis and management of growth disorders.

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Acromesomelic Dysplasia Maroteaux Type Maps to Human Chromosome 9

Cited by 35 publications

References 26 publications

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

Physical and transcriptional map of the hereditary inclusion body myopathy locus on chromosome 9p12-p13

Homozygous Sequence Variants in the NPR2 Gene Underlying Acromesomelic Dysplasia Maroteaux Type (AMDM) in Consanguineous Families

ABCs of Natriuretic Peptides: Growth

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