Leah Fleming
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Growth Standards for Children With Smith–Magenis Syndrome (<span>SMS</span>) Open
Smith–Magenis syndrome (SMS, OMIM 182290) is a complex syndromic diagnosis marked by neurobehavioral differences and distinct facial dysmorphisms, caused by haploinsufficiency of the retinoic acid‐1 ( RAI1 ) gene either by a pathogenic seq…
View article: <i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies
<i>TFAP2E</i>is implicated in central nervous system, orofacial and maxillofacial anomalies Open
Background Previous studies in mouse, Xenopus and zebrafish embryos show strong tfap2e expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human…
View article: Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts Open
Biallelic pathogenic variants in UQCRFS1 underlie a rare form of isolated mitochondrial complex III deficiency associated with lactic acidosis and a distinctive scalp alopecia previously described in two unrelated probands. Here, we descri…
A diagnosis of <span>Birt–Hogg–Dubé</span> syndrome in individuals with <span>Smith–Magenis</span> syndrome: Recommendation for cancer screening Open
We report a series of four unrelated adults with Smith–Magenis syndrome (SMS) and concomitant features of Birt–Hogg–Dubé (BHD) syndrome based upon haploinsufficiency for FLCN and characteristic renal cell carcinomas and/or evidence of cuta…
View article: <i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome
<i>DNAJC30</i> defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome Open
The recent description of biallelic DNAJC30 variants in Leber hereditary optic neuropathy (LHON) and Leigh syndrome challenged the longstanding assumption for LHON to be exclusively maternally inherited and broadened the genetic spectrum o…
View article: Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy
Variants in <i>ATP6V0A1</i> cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy Open
The vacuolar H+-ATPase is a large multi-subunit proton pump, composed of an integral membrane V0 domain, involved in proton translocation, and a peripheral V1 domain, catalysing ATP hydrolysis. This complex is widely distributed on the mem…
View article: <i>Int22h1/Int22h2</i> ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features
<i>Int22h1/Int22h2</i> ‐mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features Open
Int22h1/Int22h2-mediated Xq28 duplication syndrome is a relatively new X-linked intellectual disability syndrome, arising from duplications of the subregion flanked by intron 22 homologous regions 1 and 2 on the q arm of chromosome X. Its …
View article: Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants
Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Open
The original version of this Article contained an error in the spelling of the author J. Lawrence Merritt, which was incorrectly given as Lawrence Merritt. This has now been corrected in both the PDF and HTML versions of the Article.
View article: Cover Image, Volume 176A, Number 4, April 2018
Cover Image, Volume 176A, Number 4, April 2018 Open
The cover image, by Yuri A. Zarate et al., is based on the Original Article Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome, DOI: 10.1002/ajmg.a.38630
Prospective Evaluation of Kidney Disease in Joubert Syndrome Open
Background and objectives Joubert syndrome is a genetically heterogeneous ciliopathy associated with >30 genes. The characteristics of kidney disease and genotype-phenotype correlations have not been evaluated in a large cohort at a single…
Identification of <i>STAC3</i> variants in non‐Native American families with overlapping features of Carey–Fineman–Ziter syndrome and Moebius syndrome Open
Horstick et al. (2013) previously reported a homozygous p.Trp284Ser variant in STAC3 as the cause of Native American myopathy (NAM) in 5 Lumbee Native American families with congenital hypotonia and weakness, cleft palate, short stature, p…