Waardenburg anophthalmia syndrome: Report and review

Çoğulu, Özgür; Özkınay, Ferda; Güundüz, Cumhur; Sapmaz, Gül; Ozkinay, Cihangir

doi:10.1002/(sici)1096-8628(20000117)90:2<173::aid-ajmg17>3.3.co;2-e

Cited by 5 publications

(5 citation statements)

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“…A few genes have been reported in association with microphthalmia and brain abnormalities including SOX2 with brain anomalies [Fantes et al, 2003], OTX2 [Ragge et al, 2005], SIX6 with pituitary anomalies [Gallardo et al, 1999], HESX1 with septo optic dysplasia, [Dattani et al, 1998] and PITX3 with microphthalmia and CNS defects in homozygous individual [Bidinost et al, 2006]. All patterns of inheritance including X‐linked have been reported in association with mutations in these genes [Graham et al, 1991; Bessant et al, 1999; Cogulu et al, 2000; Morle et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

Chitayat

Sroka

Keating

et al. 2007

American J of Med Genetics Pt A

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The combination of pulmonary agenesis/dysgenesis/hypoplasia, microphthalmia/anophthalmia, and a diaphragmatic defect (agenesis or eventration) is a rare syndrome presumed to have an autosomal recessive mode of inheritance based on a report of affected siblings born to unaffected parents [Seller et al., 1996]. The condition is known as Spear syndrome and Matthew-Wood syndrome, although genetic heterogeneity cannot be ruled out. We report on eight patients with this condition including a living child, three sibs and three isolated cases. Most presented with fetal ultrasound findings of microphthalmia/anophthalmia, and diaphragmatic eventration/hernia and in five, cardiac abnormalities were also found. The earliest detection was at 20 weeks gestation. This is the second report of sibs affected with this condition, which supports an autosomal recessive mode of inheritance. We present the first and only reported living patient with this condition and expand the intrafamilial, interfamilial, and ethnic variability of this condition. We suggest changing the condition's name to PDAC to reflect the most important components of this condition.

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Section: Discussionmentioning

confidence: 99%

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

Chitayat

Sroka

Keating

et al. 2007

American J of Med Genetics Pt A

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“…To date 31 cases have been reported in literature. Consanguinity was found in 83% of the cases, supporting autosomal recessive inheritance [Richieri‐Costa et al, 1983b; Al Gazali et al, 1994; Suyugul et al, 1996; Cogulu et al, 2000; Caksen et al, 2002; Kara et al, 2002].…”

Section: To the Editormentioning

confidence: 94%

Phenotypic non‐equivalence of murine (monocyte‐) macrophage cells in biomaterial and inflammatory models

Chamberlain

Godek

Gonzalez-Juarrero

et al. 2008

J Biomedical Materials Res

104

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Cells of the mononuclear phagocytic system including monocytes and macrophages (e.g., pooled human monocytes, bone marrow-derived macrophages, etc.) are often employed for in vitro assessment of novel biomaterials and to assay anti-inflammatory drug activity. In this context, numerous macrophage cells are treated interchangeably in the literature despite a lack of demonstrated equivalence among immortalized cell lines and further, between cell lines and primary-derived macrophages of different species. Three murine (monocyte-) macrophage cell lines (IC-21, J774A.1, and RAW 264.7), commonly utilizedin biomaterial and pharmaceutical screening research, have been compared with primary-derived murine bone marrow macrophages. Significant differences were discovered in the expression of cell surface proteins requisite for cell adhesion and activation among cell lines and primary-derived cells as well as between the different cell lines. Results demonstrate activation but with reduced cytokine expression to chemical stimulus (lipopolysaccharide) by cell lines compared with that of primary-derived macrophages. Limited correlation between cultured primary and immortalized cells in cytokine production, phenotype and intrinsic activation states has relevance to fidelity for in vitro testing. These differences warrant justification for selection of various cell lines for specific assay purposes, and merit caution if comparisons to primary cell types (i.e., for biocompatibility) are required.

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“…A total of four families with one or two cases of MLA were analyzed in this study, including three previously reported families (A, B, and C). 12,13 Family X from Turkey, which has been previously described, 14 was newly recruited to this study. Detailed clinical information of all the patients is available in the literature, 12,14 and phenotypes of patients with confirmed mutations are summarized in Table S1 (available online).…”

Section: Subjectsmentioning

confidence: 99%

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

Okada

Hamanoue

Terada

et al. 2011

The American Journal of Human Genetics

Self Cite

109

110

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Microphthalmia with limb anomalies (MLA) is a rare autosomal-recessive disorder, presenting with anophthalmia or microphthalmia and hand and/or foot malformation. We mapped the MLA locus to 14q24 and successfully identified three homozygous (one nonsense and two splice site) mutations in the SPARC (secreted protein acidic and rich in cysteine)-related modular calcium binding 1 (SMOC1) in three families. Smoc1 is expressed in the developing optic stalk, ventral optic cup, and limbs of mouse embryos. Smoc1 null mice recapitulated MLA phenotypes, including aplasia or hypoplasia of optic nerves, hypoplastic fibula and bowed tibia, and syndactyly in limbs. A thinned and irregular ganglion cell layer and atrophy of the anteroventral part of the retina were also observed. Soft tissue syndactyly, resulting from inhibited apoptosis, was related to disturbed expression of genes involved in BMP signaling in the interdigital mesenchyme. Our findings indicate that SMOC1/Smoc1 is essential for ocular and limb development in both humans and mice.

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Waardenburg anophthalmia syndrome: Report and review

Cited by 5 publications

References 0 publications

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

The PDAC syndrome (pulmonary hypoplasia/agenesis, diaphragmatic hernia/eventration, anophthalmia/microphthalmia, and cardiac defect) (Spear syndrome, Matthew‐Wood syndrome): Report of eight cases including a living child and further evidence for autosomal recessive inheritance

Phenotypic non‐equivalence of murine (monocyte‐) macrophage cells in biomaterial and inflammatory models

SMOC1 Is Essential for Ocular and Limb Development in Humans and Mice

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