Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome

Aminzadeh, Majid; Galehdari, Hamid; Shariati, Gholamreza; Malekpour, Nasrin; Ghandil, Pegah

doi:10.1016/j.jped.2018.07.005

Cited by 4 publications

(3 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Second, the diagnosis of SSS is supported by the clinical differential signs summarized by Naguib et al (2009) (Table S2). Third, our patient has microcephaly and ID, which are present in all SSS patients (Aminzadeh, Galehdari, Shariati, Malekpour, & Ghandil, 2020; Elhassanien & Alghaiaty, 2013), but not in KCS1 and KCS2. Furthermore, our patient showed intelligible speech, compatible with the neurological description of ID by Elhassanien and Alghaiaty (2013) with no severe speech disorders in SSS.…”

Section: Discussionmentioning

confidence: 64%

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

Cavole

Perrone

Soares

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

Kenny-Caffey syndrome (KCS) is a rare hereditary skeletal disorder involving hypoparathyroidism. The autosomal dominant form (KCS2), caused by heterozygous pathogenic variants in the FAM111A gene, is distinguished from the autosomal recessive form (KCS1) and Sanjad-Sakati syndrome (SSS), both caused by pathogenic variants in the tubulin folding cofactor E (TBCE) gene, by the absence of microcephaly and intellectual disability. We present a patient with KCS2 caused by a de novo pathogenic variant c.1706G>A (p.Arg569His) in FAM111A gene, presenting intellectual disability and microcephaly, which are considered to be typical signs of SSS. We suggest that KCS1, KCS2, and SSS may not represent mutually exclusive clinical entities, but possibly an overlapping spectrum.

show abstract

Section: Discussionmentioning

confidence: 64%

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

Cavole

Perrone

Soares

et al. 2020

American J of Med Genetics Pt A

View full text Add to dashboard Cite

show abstract

“…All of these features result from significant prenatal and postnatal growth retardation. 4 8 The disorder is characterized by congenital hypoparathyroidism leading to early onset hypocalcemic seizures. In addition, ocular anomalies, such as nanophthalmos, retinal vascular tortuosity, and corneal opacification, were documented in literature.…”

Section: Clinical Manifestationmentioning

confidence: 99%

“…9 10 Laboratory finding in SSS in all patients showed low levels of calcium in the setting of low parathyroid hormone (PTH) levels as well as high phosphorus level, low levels of magnesium, and high alkaline phosphatase (ALP) with low vitamin D level. Aminzadeh et al 8 described that the major biochemical levels are serum calcium ranged from 5 to 7 mg/dL (reference range: 8.5–11 mg/dL), phosphorus ranged from 6.4 to 13 mg/dL (reference range: 4–6.5 mg/dL), and high ALP (1350 U/L). Furthermore, low vitamin D 4.2 ng/mL (reference range: 30–50 ng/mL) and PTH values < 0.4 to 7.5 (reference range: 15–65 pg/mL) have also been seen in previous cases.…”

Section: Clinical Manifestationmentioning

confidence: 99%

Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients

2022

View full text Add to dashboard Cite

Sanjad-Sakati syndrome (SSS) (Online Mendelian Inheritance in Man 241410) is a rare autosomal recessive disorder also known as hypoparathyroidism-retardation-dysmorphism syndrome. It is characterized by congenital hypoparathyroidism, growth retardation, typical facial features, and variable developmental delay. SSS is caused due to mutations of the tubulin-specific chaperone E (TBCE) gene. In this article, we reported the first Libyan child of first parental consanguinity with SSS and whole exome sequencing results identified the homozygous missense variant c.155–166del and it encodes p.(Ser52-Gly55del) (chr1:235564867) located in the TBCE gene, chromosome 1q42.3. In addition, the patient was also diagnosed with congenital hypothyroidism and presented with acquired bilateral cataract in the first year of life. Most likely, all Arab patients with SSS syndrome have the same TBCE gene mutation.

show abstract

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

et al. 2022

View full text Add to dashboard Cite

BackgroundHypoparathyroidism, retardation, and dysmorphism (HRD) Syndrome is a rare disease composed of hypoparathyroidism, retardation of both growth and development, and distinctive dysmorphic features. Here, we describe the long-term morbidity and mortality in a large cohort of HRD patients and suggest recommendations for follow up and treatment.MethodsMedical records of 63 HRD syndrome patients who were followed at Soroka Medical Center during 1989–2019 were reviewed retrospectively. Information regarding demographics, medical complications, laboratory findings, and imaging studies was collected.ResultsThe mortality rate was 52%. The main causes of death were infectious diseases including pneumonia, septic shock, and meningitis. Multiple comorbidities were found including brain anomalies in 90% of examined patients (basal ganglia calcifications, tightening of corpus callosum, Chiari malformation, hydrocephalous, and brain atrophy), seizures in 62%, nephrocalcinosis and/or nephrolithiasis in 47%, multiple eye anomalies were recorded in 40%, bowel obstructions in 9.5%, and variable expression of both conductive and senso-neural hearing loss was documented in 9.5%.ConclusionHRD is a severe multisystem disease. Active surveillance is indicated to prevent and treat complications associated with this rare syndrome.

show abstract

Clinical features and tubulin folding cofactor E gene analysis in Iranian patients with Sanjad–Sakati syndrome

Cited by 4 publications

References 22 publications

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

Overlapping phenotype comprising Kenny‐Caffey type 2 and Sanjad‐Sakati syndromes: The first case report

Homozygous TBCE Gene Mutation c.155-166del in a Libyan Patient with Sanjad-Sakati Syndrome: Same Gene Mutation Responsible in All Arab Ethnic Patients

Hypoparathyroidism-retardation-dysmorphism syndrome—Clinical insights from a large longitudinal cohort in a single medical center

Contact Info

Product

Resources

About